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Expression of the multiple sclerosis-associated MHC class II Allele HLA-DRB11501 is regulated by vitamin D

PLoS genetics, 2009-02, Vol.5 (2), p.e1000369-e1000369

2009

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Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A

The Journal of experimental medicine, 2021-10, Vol.218 (10)

2021

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Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

Cancer discovery, 2015-02, Vol.5 (2), p.135-142

2015

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DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

European journal of human genetics : EJHG, 2016-07, Vol.24 (7), p.1084-1088

2016

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Mutations in PIK3R1 Cause SHORT Syndrome

American journal of human genetics, 2013-07, Vol.93 (1), p.158-166

2013

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Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery

American journal of human genetics, 2022-11, Vol.109 (11), p.1947-1959

2022

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Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada

Genetics in medicine, 2022-01, Vol.24 (1), p.100-108

2022

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Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research

American journal of medical genetics. Part C, Seminars in medical genetics, 2018-12, Vol.178 (4), p.387-397

2018

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p21 protein‐activated kinase 1 is associated with severe regressive autism, and epilepsy

Clinical genetics, 2019-11, Vol.96 (5), p.449-455

2019

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IRF2BPL ‐Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures ( NEDAMSS ) Is Characterized by Pathology Consistent with DRPLA

Movement disorders, 2024-09

2024

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BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

The Journal of clinical investigation, 2015-06, Vol.125 (6), p.2363-2368

2015

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Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency

Genetics (Austin), 2017-12, Vol.207 (4), p.1501-1518

2017

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Timing of birth and risk of multiple sclerosis: population based study

BMJ, 2005-01, Vol.330 (7483), p.120

International edition, 2005

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Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

Canadian Medical Association journal (CMAJ), 2016-08, Vol.188 (11), p.E254-E260

2016

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De novo substitutions of TRPM3 cause intellectual disability and epilepsy

European journal of human genetics : EJHG, 2019-10, Vol.27 (10), p.1611-1618

2019

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Rare variants in the CYP27B1 gene are associated with multiple sclerosis

Annals of neurology, 2011-12, Vol.70 (6), p.881-886

2011

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SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation

Human molecular genetics, 2017-10, Vol.26 (19), p.3713-3721

2017

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Periodic breathing in patients with NALCN mutations

Journal of human genetics, 2018-10, Vol.63 (10), p.1093-1096

2018

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Unsolved recognizable patterns of human malformation: Challenges and opportunities

American journal of medical genetics. Part C, Seminars in medical genetics, 2018-12, Vol.178 (4), p.382-386

2018

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PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

Brain (London, England : 1878), 2019-03, Vol.142 (3), p.542-559

2019

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Genetics of multiple sclerosis

Lancet neurology, 2004-02, Vol.3 (2), p.104-110

2004

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Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia

American journal of medical genetics. Part A, 2022-06, Vol.188 (6), p.1667-1675

2022

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A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria

Genes, 2023-01, Vol.14 (1), p.108

2023

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Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy

Human molecular genetics, 2015-09, Vol.24 (18), p.5109-5114

2015

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Expression of the multiple sclerosis-associated MHC class II Allele HLA-DRB11501 is regulated by vitamin D

Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

Mutations in PIK3R1 Cause SHORT Syndrome

Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery

Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada

Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research

p21 protein‐activated kinase 1 is associated with severe regressive autism, and epilepsy

IRF2BPL ‐Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures ( NEDAMSS ) Is Characterized by Pathology Consistent with DRPLA

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency

Timing of birth and risk of multiple sclerosis: population based study

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

De novo substitutions of TRPM3 cause intellectual disability and epilepsy

Rare variants in the CYP27B1 gene are associated with multiple sclerosis

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation

Periodic breathing in patients with NALCN mutations

Unsolved recognizable patterns of human malformation: Challenges and opportunities

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

Matchmaking facilitates the diagnosis of an autosomal‐recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene

Genetics of multiple sclerosis

Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia

A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy

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